Two single nucleotide polymorphisms in PRDM9 (MEISETZ) gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.
OBJECTIVE
To investigate whether defects in human PRDM9, CDK2 and PSMC3IP are associated with azoospermia Mutational analysis was performed in Japanese patients with azoospermia caused by meiotic arrest.


METHODS
Mutational screening of the coding regions of human PRDM9, CDK2 and PSMC3IP was done by direct sequencing using genomic DNA from 18 Japanese patients. Statistical analysis of the detected coding single nucleotide polymorphisms (cSNPs) in patients and normal control men was then carried out.


RESULTS
One cSNP was detected in CDK2 and PSMC3IP. There were no significant differences in genotype distribution and allele frequencies between the patient and control groups in these two genes. However, three novel cSNPs were detected in the PRDM9. The genotype and allele frequencies of heterozygotes in SNP2 and SNP3 of PRDM9 were significantly higher in the patient group than in the control group.


CONCLUSIONS
We found a possible association between PRDM9 and azoospermia by meiotic arrest.
Miyamoto
Toshinobu
T
Department of Obstetrics and Gynecology, Asahikawa Medical College, Asahikawa, Japan. toshim@asahikawa-med.ac.jp
Koh
Eitetsu
E
Sakugawa
Naoko
N
Sato
Hisashi
H
Hayashi
Hiroaki
H
Namiki
Mikio
M
Sengoku
Kazuo
K
D000483:Alleles; D053713:Azoospermia / Q000201:enzymology / Q000235:genetics*; D051357:Cyclin-Dependent Kinase 2 / Q000235:genetics; D004247:DNA / Q000737:chemistry / Q000235:genetics; D000076983:Histone Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007564:Japan; D008297:Male; D008540:Meiosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011496:Protein Methyltransferases / Q000235:genetics*; D017422:Sequence Analysis, DNA; D015534:Trans-Activators / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D009687:Nuclear Proteins; C443678:PSMC3IP protein, human; D015534:Trans-Activators; D014157:Transcription Factors; D004247:DNA; D000076983:Histone Methyltransferases; D011496:Protein Methyltransferases; D011495:Histone-Lysine N-Methyltransferase; D051357:Cyclin-Dependent Kinase 2